Mitochondrial tRNA Valine in Cardiomyopathies

Mitochondrial respiratory chain disorders are a heterogeneous group of diseases that clinically involve multiple tissues although they tend to mainly affect nervous system and skeletal muscle. The predominance of neurologic and neuromuscular manifestations in mitochondrial diseases has generally masked the presence of other, but not less important, clinical phenotypes, such as cardiac complications. Nowadays, mitochondrial defects are being increasingly recognized to play an important role in the pathogenesis of a subgroup of cardiomyopathies produced by defects in the energetic metabolism (mitochondrial cardiomyopathies). These diseases can result from mutations in either nuclear or mitochondrial encoded genes although mitochondrial DNA mutations are more frequent. In fact, cardiac conduction abnormalities have been associated with different mtDNA rearrangements. In a same way, sporadic or inherited mutations in mitochondrial DNA specifically in the mitochondrial transfer ribonucleic acid genes (mostly in the tRNALeu(UUR) and tRNAIle) have also been associated with hypertrophic and dilated cardiomyopathy. Mitochondrial diseases caused by mutations in the mitochondrial tRNAVal gene (MT-TV) are not very frequent. However, a relatively high percentage of mutations in this gene have been associated with mitochondrial cardiomyopathy. Besides, functional and molecular analyses suggest that the MT-TV gene should be routinely considered in the diagnosis when there is a high suspicion of mitochondrial cardiomyopathy. Finally, the increasingly importance of the role that this gene has begun to play in the pathophysiology of mitochondrial cardiomyopathies indicates that future studies about the molecular mechanisms that could explain why the cardiomyopathy phenotype appears must be carried ouThis work was supported by grants of the Center for Biomedical Research on Rare Diseases (CIBERER), Instituto de Salud Carlos III (grants PI 07/0167, PI 10/0703 to R.G. and PI06/0205, PS09/00941 to B.B.) and Comunidad de Madrid (grant number S2010/BMD-2402)

Is funding related to higher research impact? Exploring its relationship and the mediating role of collaboration in several disciplines

The funding process is increasingly under scrutiny in order to ensure the effectiveness of research investments. This paper contributes to improve our understanding of the effects of funding on research performance through the analysis of the scientific publications of Spain-based researchers in seven disciplines during a five-year period. Funding data are extracted from the “Funding acknowledgment” field of the WoS database. Firstly, funded research is compared to the non-funded one regarding impact and collaboration through bivariate analyses. Funded research is published in more prestigious journals, attains higher citation rates and is developed in teams of greater size in all disciplines, but only in a few of them is associated to greater extra-mural collaboration. Secondly, a logistic regression model is used to explore whether funding contributes to explain the likelihood of papers to attain citation rates above world average controlling for other variables such as prestige of publication journal and collaboration. Thirdly, funding shows direct and indirect effects on the citation rate of papers. Indirect effects are mediated through the publication of more complete papers, in more prestigious journals and with more extensive collaboration, although the presence and magnitude of these effects vary by discipline. The results are discussed in the context of their interest for research policy.This research was supported by the Spanish Ministry of Economy and Competitiveness (MINECO) [grants CSO2014-57826-P and BES-2015-073537] and the Spanish National Research Council (CSIC) [grant 201810E052]Peer reviewe